Variant report

Variant	rs12517703
Chromosome Location	chr5:9011519-9011520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11134338	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11134339	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11134341	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11134342	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11134343	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11134347	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1124255	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1124256	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11738634	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11738920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743644	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11750315	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750358	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11951651	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11952933	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12186781	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12187003	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12187849	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188659	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12189149	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12189462	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12521160	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12523277	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1379574	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1457772	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16881803	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881805	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16881807	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16881838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36068583	0.85[ASN][1000 genomes]
rs4472235	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4612031	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6870588	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6897203	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7703582	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7720782	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723456	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7727402	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv830199	chr5:8855056-9024096	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv482764	chr5:8906261-9056262	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv881150	chr5:8961561-9041935	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv880848	chr5:8964069-9041935	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9010400-9013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:9010600-9013000	Weak transcription	NHLF	lung
3	chr5:9010600-9013200	Weak transcription	Osteobl	bone
4	chr5:9010600-9013400	Weak transcription	HMEC	breast
5	chr5:9010600-9014400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:9010600-9014600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:9010800-9013000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:9010800-9013000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:9010800-9013000	Weak transcription	NHDF-Ad	bronchial
10	chr5:9010800-9014600	Weak transcription	HSMM	muscle
11	chr5:9011000-9013600	Weak transcription	NHEK	skin
12	chr5:9011200-9013400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:9011200-9014600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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